NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly) AND Charcot-Marie-Tooth disease axonal type 2S
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 26, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001336447.2
Allele description [Variation Report for NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly)]
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly)
Condition(s)
-
AGENCOURT_15066572 NICHD_XGC_Emb7 Xenopus tropicalis cDNA clone IMAGE:6977675 3'...
AGENCOURT_15066572 NICHD_XGC_Emb7 Xenopus tropicalis cDNA clone IMAGE:6977675 3', mRNA sequencegi|33424959|gnl|dbEST|19438096|gb|C 51.1|Nucleotide
-
AGENCOURT_69654315 NICHD_XGC_Emb10 Xenopus laevis cDNA clone IMAGE:8320511 5', m...
AGENCOURT_69654315 NICHD_XGC_Emb10 Xenopus laevis cDNA clone IMAGE:8320511 5', mRNA sequencegi|88886154|gnl|dbEST|36943907|gb|D 47.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024